Background:

Cells obtain cholesterol via two distinct pathways, endogenous synthesis in the endoplasmic reticulum and exogenous uptake through the low-density lipoprotein (LDL) receptor pathway. NPC1 is a protein that resides in late endosomes and lysosomes and is involved in the intracellular trafficking of cholesterol. The human NPC1 gene maps to chromosome 18q11.2 and produces proteins which undergo N-glycosylation and are expressed in brain and liver. NPC1 contains a cysteine-rich domain, which is critical for proper protein function, but is highly mutated. Mutations in NPC1 result in Niemann-Pick disease type C (NPC), an autosomal recessive disease characterized by the accumulation of unesterified cholesterol in the endosomal/lysosomal system. The accumulation of cholesterol results in progressive neurodegeneration and death. More than 90% of cases of NPC are due to mutations in NPC1 and patients with NPC display multiple neurological symptoms, such as hepatosplenomegaly, ataxia, dystonia and dementia.

Specificity:

Niemann Pick C1 polyclonal antibody detects endogenous levels of Niemann Pick C1 protein.

Alternative names:

NPC1, Niemann Pick C1 protein precursor, Niemann Pick disease, type C1, Niemann-Pick C1 protein, NPC, NPC1, NPC1,

Species reactivity:

Human, Mouse, Rat

Host:

Rabbit

Ig type:

Rabbit IgG, 1mg/ml in PBS with 0.02% sodium azide, 50% glycerol, pH7.2

Immunogen:

Recombinant protein

Purification & Purity:

ProA affinity purified

Molecular weight:

142 kDa

Applications:

WB ICC IF IHC FC

Usage:

WB:1:500-1:1,000 ICC/IF:1:50-1:200 IHC:1:50-1:200 FC:1:50-1:100

Storage:

Store at +4°C after thawing. Aliquot store at -20°C or -80°C. Avoid repeated freeze / thaw cycles.

Precautions:

For research use only, not for use in diagnostic procedure.

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Email: info@sobekbio.com

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